Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency

Abstract

Objective: Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene. Retarded psychomotor development, macrocephaly, coarse face, hepatosplenomegaly, ichtyosis and skeletal findings like scoliosis and dysostosis multiplex are the most common findings of the disease. Methods: A 4-year-old girl who was admitted to our hospital for vomiting and feding difficulty since 10 days. On examination, she had coarse face, ichtyosis, hypertrichosis, and hepatosplenomegaly. Also, she had generalized axial hypotonia with decreased tone in the four extremities, and deep tendon reflexes were absent. Results: X-rays of the elbow and vertebral column were compatible with dysostosis multiplex. Electromyography, and echocardiogram were normal. Cerebral magnetic resonance imaging (MRI) revealed large ventricles suggested hydrocephalus, and ventriculoperitoneal shunt performed. MRI did not demonstrate any white matter changes in the brain. We analyzed a novel homozygous p.S155P (c.463T>C) in the SUMF1 gene.Conclusion: Hydrocephalus is rare symptom that may occur in MSD as in other MPS. It's important to consider the possibility of hydrocephalus when additional acute neurological findings such as increased intracranial pressure were developed besides chronic neurological findings.